Patient-Specific Induced Pluripotent Stem Cell Models for Heritable Channelopathies and Cardiomyopathies

Overview

  • Study type

    Observational
  • Study IDs

  • Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
  • Site IRB
    • Rochester, Minnesota: 09-006465
    Sponsor Protocol Number: 09-006465

About this study

The purpose of this study is to derive and characterize patient-specific disease models for sudden death-predisposing heritable channelopathies and cardiomyopathies using iPS-cell technology.  It is hoped that the molecular, cellular, and electrophysiological phenotypes of these in-vitro disease models will further elucidate the pathophysiologic mechanisms underlying these sudden death-associated conditions.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

See eligibility criteria

Inclusion Criteria:

  • Patients age 0-100 with a clinically diagnosed heritable channelopathy or cardiomyopathy (the proband). 
  • Relatives of the proband  ≥18 years old who are mutation negative and/or disease negative, to serve as controls. 
  • Note of clarification: Only children with a clinically diagnosed heritable channelopathy or cardiomyopathy are eligible to participate in this study.  If the relative of a proband is a child without the heritable channelopathy or cardiomyopathy, that child is not eligible to participate.

Exclusion Criteria:

  • Patients with allergy to subcutaneous lidocaine, bupivicaine, or epinephrine.  
  • Relatives of a proband that are <18 years of age who are mutation negative and/or disease-negative. 
    • In other words, children are only eligible for this study if they themselves have a heritable channelopathy or cardiomyopathy; they are not eligible to serve as controls

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Michael Ackerman, M.D., Ph.D.

Open for enrollment

Contact information:

Carla Haglund-Turnquist

(507)284-8900

HaglundTurnquist.Carla@mayo.edu

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CLS-20314529

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